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Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

Human molecular genetics, 2012-08, Vol.21 (15), p.3435-3448

2012

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ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Brain (London, England : 1878), 2007-08, Vol.130 (8), p.2045-2054

2007

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Mitochondrial fatty acid oxidation defects—remaining challenges

Journal of inherited metabolic disease, 2008-10, Vol.31 (5), p.643-657

2008

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Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency

Human molecular genetics, 2013-10, Vol.22 (19), p.3819-3827

2013

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Human inborn errors of long‐chain fatty acid oxidation show impaired inflammatory responses to TLR4‐ligand LPS

FASEB bioAdvances, 2024-09, Vol.6 (9), p.337-350

2024

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Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism

Journal of inherited metabolic disease, 2015-07, Vol.38 (4), p.703-719

2015

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Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.1015-1024

2013

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Bioenergetic and Proteomic Profiling of Immune Cells in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients: An Exploratory Study

Biomolecules (Basel, Switzerland), 2021-06, Vol.11 (7), p.961

2021

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Disease mechanisms and protein structures in fatty acid oxidation defects

Journal of inherited metabolic disease, 2010-10, Vol.33 (5), p.547-553

2010

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A direct comparison of the pharmacodynamic properties of insulin detemir and neutral protamine lispro insulin in patients with type 1 diabetes

Diabetes, obesity & metabolism, 2013-03, Vol.15 (3), p.241-245

2013

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Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

Human mutation, 2011-01, Vol.32 (1), p.E1976-E1984

2011

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Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function

Clinical genetics, 2016-04, Vol.89 (4), p.489-494

2016

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Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

Journal of inherited metabolic disease, 2011-02, Vol.34 (1), p.185-195

2011

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FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening

Molecular genetics & genomic medicine, 2019-09, Vol.7 (9), p.e915-n/a

2019

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FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts

Clinical genetics, 2018-12, Vol.94 (6), p.592-593

2018

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Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

Journal of inherited metabolic disease, 2005-08, Vol.28 (4), p.533-544

2005

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Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland — Experience and development of a routine program for expanded newborn screening

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.281-293

2012

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Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency

Molecular genetics and metabolism, 2014-03, Vol.111 (3), p.360-368

2014

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Kinetics, mechanism, and thermochemistry of the gas-phase reaction of atomic chlorine with pyridine

Physical chemistry chemical physics : PCCP, 2007-08, Vol.9 (31), p.4383

2007

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Odd- and even-numbered medium-chained fatty acids protect against glutathione depletion in very long-chain acyl-CoA dehydrogenase deficiency

Biochimica et biophysica acta. Molecular and cell biology of lipids, 2023-02, Vol.1868 (2), p.159248-159248, Article 159248

2023

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Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis

Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1119-1127

2015

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Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts

Human molecular genetics, 2014-08, Vol.23 (16), p.4285-4301

2014

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Lyme neuroborreliosis in 2 horses

Veterinary pathology, 2011-11, Vol.48 (6), p.1151-1157

2011

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Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD deficiency

Biochimica et biophysica acta. Molecular basis of disease, 2021-06, Vol.1867 (6), p.166100-166100, Article 166100

2021

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A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.373-377

2010

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Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Mitochondrial fatty acid oxidation defects—remaining challenges

Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency

Human inborn errors of long‐chain fatty acid oxidation show impaired inflammatory responses to TLR4‐ligand LPS

Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism

Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

Bioenergetic and Proteomic Profiling of Immune Cells in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients: An Exploratory Study

Disease mechanisms and protein structures in fatty acid oxidation defects

A direct comparison of the pharmacodynamic properties of insulin detemir and neutral protamine lispro insulin in patients with type 1 diabetes

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening

FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland — Experience and development of a routine program for expanded newborn screening

Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency

Kinetics, mechanism, and thermochemistry of the gas-phase reaction of atomic chlorine with pyridine

Odd- and even-numbered medium-chained fatty acids protect against glutathione depletion in very long-chain acyl-CoA dehydrogenase deficiency

Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis

Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts

Lyme neuroborreliosis in 2 horses

Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD deficiency

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

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